ClinVar Miner

List of variants reported as likely pathogenic for Acute megakaryoblastic leukemia without down syndrome by Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000121.4(EPOR):c.1316G>A (p.Trp439Ter)	rs121917830
NM_014159.7(SETD2):c.1321C>T (p.Arg441Ter)	rs1293916143
NM_014159.7(SETD2):c.3918G>A (p.Trp1306Ter)	rs2043042281

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